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General Information
Symbol
Dmel\NAx-E2
Species
D. melanogaster
Name
FlyBase ID
FBal0012858
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
AxE2, NAxE2
Key Links
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

C3166127T

Reported nucleotide change:

C?T

Amino acid change:

H1167Y | N-PA; H1167Y | N-PB

Reported amino acid change:

H1167Y

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology

Polytene chromosomes are normal (Foster, 1975).

Nature of the lesion
Statement
Reference

H to Y substitution in the 29th EGF repeat of the N protein.

Mutation is within EGF element 29 of the N extracellular domain.

Amino acid replacement: H1167Y.

Amino acid replacement: H1167Y. Mutant partially sequenced; correlated with single amino acid replacements within six adjacent EGF-homologous elements of the N protein; has Gly at residue 2057 characteristic of Oregon R rather than Ser of Canton S (Kelley, Kidd, Deutsch and Young, 1987). Histidine replaced by tyrosine at residue 1167 in EGF-like repeat 29; CAT --> TAT (Hartley, Xu and Artavanis-Tsakonas, 1987; Kelley, Kidd, Deutsch and Young, 1987).

Expression Data
Reporter Expression
Additional Information
Statement
Reference
 
Marker for
Reflects expression of
Reporter construct used in assay
Human Disease Associations
Disease Ontology (DO) Annotations
Models Based on Experimental Evidence ( 0 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The contact area between NAx-E2 mutant female germline stem cells and the niche is smaller than in wild type controls.

NAx-E2 mutant female germline stem cell (GSC) clones are lost more rapidly from the niche than their neighbouring control GSCs.

Heterozygotes show a loss of wing veins.

NAx-E2 mutants exhibit a loss of the fourth and fifth wing veins in male flies caused by a gain of function of Notch.

Heterozygotes have a gap at the distal end of wing vein L5.

Mutants have shortened L4 and L5 wing veins.

A small percentage of NAx-9/NAx-E2 flies survive to adulthood.

Mutant flies have 90.88 +/- 1.94 thoracic microchaetae per heminotum (compared to the wild-type number of 130.35 +/- 1.54).

Heterozygotes show loss of wing vein, with a penetrance of 8.7%.

NAx-E2 mutants exhibit elevated levels of asymmetry and reduced mean character size relative to Canton-S flies for thoracic bristles.

NAx-E2 mutants show significantly reduced mean character size for orbital bristles compared to Canton-S flies.

Shortened wing veins.

The number of missing bristles remains roughly equal with increasing temperature in homozygous flies, while the number and length of wing vein breaks increases with increasing temperature.

Some macrochaetae on the thorax are missing. Gaps in wing veins are present.

Nsu42c suppresses the pupal lethality of NAx-9/NAx-E2.

Abruptex wing phenotype dominantly enhanced by Su(H)2. Su(H)16 dominantly suppresses the lethality of NAx-E2/NAx-9 transheterozygotes.

Length of microchaetae, macrochaetae and longitudinal wing veins is reduced with respect to that of wild type. Enhances the N haplo-insufficient phenotype of loss of the wing margin. Heteroallelic combinations with lethal Abruptex alleles show stronger phenotypes at 29oC than when heterozygous with a N null at 29oC.

Short wing veins IV and V.

Heterozygotes with Dlsup4 and Dlsup5 exhibit shortening and fragmenting of vein IV only. Wing phenotype is enhanced by mutations at da.

Some hemizygous males occasionally lack the twin sensilla of the wing margin, the ventral sensillum of wing vein L3, and the anterior cross vein sensillum.

Homozygotes exhibit wing vein defects. Wing phenotype in unaffected by vg and sca mutations but enhanced when combined with deficiencies of vg and sca or just vg (wing scalloping and increased venation defects).

Mutant phenotype of transheterozygotes can be rescued when in combination with dxENU homozygotes. Male hemizygotes with dxENU have a low fertility and with dxS1M they are sterile.

Viable, enhancer type. NAx-E2/NAx-9 heterozygotes are lethal.

homozygous viable phenotype like NAx-1. Temperature sensitive for morphological phenotypes (Foster, 1975) but stable for viability (Portin and Siren, 1976). Viable in heterozygotes with N; Notch-wing phenotype is enhanced. At 18oC and 25oC, complementary in heterozygotes with recessive alleles at Notch; at 29oC, spl and Nnd-2 are weakly expressed (Portin, 1977a). Heterozygotes Nnd-3 spl NAx-E2/+++ are like spl/spl with suppression of wing-vein gaps; Nnd-3++/+ spl NAx-E2 and +spl NAx-E2/+++ show mild expression of spl (Foster, 1975). NAx-E2 is viable with alleles NAx-71d and NAx-16; lethal with lethal alleles NAx-59b and NAx-59d and with NAx-E1, NAx-9, and NAx-1 (Foster, 1975; Portin, 1975) and the lethality with NAx-1 is more pronounced at 29oC (Portin and Siren, 1976). In NAx-E2/NAx-1, the TSP for lethality is monophasic from the end of the third instar to early pupa (Portin and Siren, 1976). In NAx-E2/NAx-9, the focus of lethality is close to hypodermal sites of ventral thoracic structures, and in surviving gynandromorphs, the negative interaction between alleles is autonomous (Portin, 1977). NAx-E2 is placed on the genetic map of Notch close to and to the right of spl (Foster).

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement
Reference

NAx-E2 has visible | dominant phenotype, enhanceable by fng[+]/fng13

NAx-E2 has visible | dominant phenotype, enhanceable by frc[+]/frc00073

NAx-E2 has visible | dominant phenotype, enhanceable by frc[+]/frc10098

NAx-E2 has visible phenotype, enhanceable by Su(dx)sp

NAx-E2 has visible phenotype, enhanceable by Su(dx)4

NAx-E2 has visible phenotype, enhanceable by Su(dx)56

NAx-E2 has visible phenotype, enhanceable by Df(2L)Su(dx)-7

Suppressed by
Statement
Reference

NAx-E2 has visible | dominant phenotype, suppressible by dx152/dx[+]

NAx-E2 has visible phenotype, suppressible | partially by dshhs.PA

NAx-9/NAx-E2 has lethal phenotype, suppressible by Df(3R)Dl-BX6

NAx-9/NAx-E2 has lethal phenotype, suppressible by Dl9P

NAx-9/NAx-E2 has lethal phenotype, suppressible by mam10

Enhancer of
Statement
Reference

N[+]/NAx-E2 is an enhancer of visible | heat sensitive phenotype of HC2.hs

Suppressor of
Statement
Reference

N+/NAx-E2 is a suppressor | partially of visible | heat sensitive phenotype of Dcr-2UAS.cDa, EogtGD5084, Scer\GAL4en.PU

Other
Phenotype Manifest In
Enhanced by
Statement
Reference

NAx-E2 has wing vein phenotype, enhanceable by fng[+]/fng13

NAx-E2 has wing vein phenotype, enhanceable by frc[+]/frc00073

NAx-E2 has wing vein phenotype, enhanceable by frc[+]/frc10098

NAx-E2 has wing vein phenotype, enhanceable by Su(H)2

NAx-E2 has wing vein phenotype, enhanceable by Su(dx)sp

NAx-E2 has wing vein phenotype, enhanceable by Su(dx)4

NAx-E2 has wing vein phenotype, enhanceable by Su(dx)56

NAx-E2 has wing vein phenotype, enhanceable by Df(2L)Su(dx)-7

NAx-E2 has wing vein phenotype, enhanceable by E(spl)m8-HLH1

Suppressed by
Statement
Reference

NAx-E2 has wing vein L4 phenotype, suppressible by Ero1L[+]/Ero1L23T

NAx-E2 has wing vein L5 phenotype, suppressible by Ero1L[+]/Ero1L23T

NAx-E2 has wing vein L5 | distal phenotype, suppressible by dx152/dx[+]

NAx-E2 has wing vein L4 phenotype, suppressible | partially by Nipped-A[+]/Nipped-A323

NAx-E2 has wing vein L4 phenotype, suppressible | partially by Nipped-A[+]/Nipped-ANC194

NAx-E2 has wing vein L4 phenotype, suppressible | partially by domk08108/dom[+]

NAx-E2 has microchaeta phenotype, suppressible | partially by dshhs.PA

NAx-E2 has wing vein phenotype, suppressible by Nipped-A222.3

NAx-E2 has wing vein phenotype, suppressible by RpL3845-72

NAx-E2 has wing vein phenotype, suppressible by Su(H)16

NAx-E2 has phenotype, suppressible | partially by Df(2R)Nipped-E43

NAx-E2 has macrochaeta phenotype, suppressible by E(spl)m8-HLH1

NAx-E2 has macrochaeta phenotype, suppressible | partially by pydJ14

NAx-E2 has phenotype, suppressible by sno71e3

NOT suppressed by
Statement
Reference

NAx-E2 has wing vein L4 phenotype, non-suppressible by Nipped-A[+]/Nipped-ANC96

NAx-E2 has wing vein L4 phenotype, non-suppressible by Nipped-A[+]/Nipped-ANC105

NAx-E2 has wing vein L4 phenotype, non-suppressible by Nipped-A[+]/Nipped-ANC106

NAx-E2 has wing vein L4 phenotype, non-suppressible by Nipped-A[+]/Nipped-ANC186

NAx-E2 has wing vein L4 phenotype, non-suppressible by Ada2b[+]/Ada2bHD-5

NAx-E2 has wing vein L4 phenotype, non-suppressible by Ada2b[+]/Ada2b1

NAx-E2 has wing vein L4 phenotype, non-suppressible by Ada2b[+]/Ada2b2

NAx-E2 has wing vein L4 phenotype, non-suppressible by Ada2b[+]/Ada2b3412

NAx-E2 has phenotype, non-suppressible by vg1

NAx-E2 has phenotype, non-suppressible by Chie5.5

NAx-E2 has phenotype, non-suppressible by Nipped-B292.1

NAx-E2 has phenotype, non-suppressible by Nipped-B407

Enhancer of
Statement
Reference

N[+]/NAx-E2 is an enhancer of wing vein | ectopic | heat sensitive phenotype of HC2.hs

N[+]/NAx-E2 is an enhancer of wing | heat sensitive phenotype of HC2.hs

Suppressor of
Statement
Reference

NAx-E2 is a suppressor of phenotype of dxunspecified

Additional Comments
Genetic Interactions
Statement
Reference

The wing blistering phenotype seen in the posterior compartment of wings in flies expressing EogtGD5084 under the control of Scer\GAL4en.PU in the presence of Dcr-2Scer\UAS.cDa is dominantly partially suppressed if the flies are also heterozygous for NAx-E2.

Removal of one copy of Ero1L in NAx-E2 mutants, through a Ero1L23T heterozygous background leads to suppression of the wing vein loss phenotype.

dx152/+ completely suppresses the loss of the distal end of wing vein L5 which is seen in NAx-E2/+ flies.

Wing vein L4 is shortened in NAx-E2 mutants; heterozygosity for Nipped-A323, Nipped-ANC194 or domk08108 increases the length of L4.

The percentage of NAx-9/NAx-E2 flies surviving to adulthood is dramatically increased by dxENU/+. Survival of NAx-9/NAx-E2 dxENU/+ flies to adulthood is significantly decreased by krzS047819/+ or krzS095214/+.

The number of microchaetae in NAx-E2 flies is increased to 126.23 +/- 1.59 by expression of dshhs.PA using a heat pulse.

The penetrance of the loss of wing vein phenotype seen in NAx-E2/+ flies (8.7%) is enhanced to 95% by one copy of frc10098, to 30% by one copy of frc00073 or to 62% by one copy of fng13.

Nipped-B407, l(2)41Ae7, Chie5.5 and vg1 have little or no effect on the NAx-E2 wing vein phenotype.

Homozygous viability is decreased if the flies also carry Dp(3;3)MKRS-D2 or Dp(3;3)bxd110.

The number of bristles is rescued almost to wild type in NAx-E2 ; E(spl)1 double mutants, while the number and length of wing vein breaks are higher in NAx-E2; E(spl)1 double mutants than in NAx-E2 single mutants.

The bristle loss phenotype of NAx-E2/+ flies is partially suppressed by pydJ14.

Triple homozygotes of Su(dx)sp with NAx-E2, dxENU are inviable.

Lethality of NAx-E2/NAx-9 heterozygotes can be rescued by Df(3R)Dl-BX6, Dl9P or mam10.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer

Foster.

Induced in: Oregon-R stock.

Comments
Comments

NAx-E2 shows negative complementation with NAx-M1.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (8)
References (46)